Paroxysmal kinesigenic dyskinesia associated with a novel POLG variant: A case report

INTRODUCTION: Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disease characterized by recurrent dyskinesia or choreoathetosis triggered by sudden movements. Pathogenic variants in PRRT2 are the main cause of PKD. However, only about half of clinically diagnosed PKD patients have PRRT...

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Detalles Bibliográficos
Autores principales: Zhou, Yaping, Zhang, Jian, Wang, Xiaoting, Peng, Qian, Shang, Xiuli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
5300
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7850660/
https://www.ncbi.nlm.nih.gov/pubmed/33530235
http://dx.doi.org/10.1097/MD.0000000000024395

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7850660/
https://www.ncbi.nlm.nih.gov/pubmed/33530235
http://dx.doi.org/10.1097/MD.0000000000024395

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